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DO Project Publications

To cite your use of the Disease Ontology in your work, please cite one of these publications:

  • Schriml, L. M., Mitraka, E., Munro, J., Tauber, B., Schor, M., Nickle, L., Felix, V., Jeng, L., Bearer, C., Lichenstein, R., Bisordi, K., Campion, N., Hyman, B., Kurland, D., Oates, C.P., Kibbey, S., Sreekumar, P., Le, C., Giglio, M. Greene, C. (2018). Human Disease Ontology 2018 update: classification, content and workflow expansion. Nucleic acids research, 47(D1), D955–D962. doi:10.1093/nar/gky1032 PMID:30407550 PDF
  • Bello S.M., Shimoyama M., Mitraka E., Laulederkind S.J.F., Smith C.L., Eppig J.T., &Schriml L.M.(2018). Disease Ontology: improving and unifying disease annotations across species. Disease Models and Mechanisms,11,1-9. doi:10.1242/dmm.032839 PMID:29590633 PDF
  • Schriml L.M. &Mitraka E.(2015)The Disease Ontology: fostering interoperability between biological and clinical human disease-related data, Mammalian Genome 26,584-9.doi: 10.1007/s00335-015-9576-9 PMID:26093607 PDF
  • Wu T.J., Schriml L.M., Chen Q.R., Colbert M., Crichton D.J., Finney R. Hu Y., Kibbe W.A., Kincaid H., Meerzaman D., Mitraka E., Pan Y., Smith K.M., Srivastava S., Ward S., Yan C., & Mazumder R.,(2015) Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis, Database (Oxford). doi:10.1093/database/bav032 PMID:25841438 PDF
  • Kibbe W.A., Arze C., Felix V., Mitraka E., Bolton E., Fu G., Mungall C.J., Binder J.X., Malone J., Vasant D., Parkinson H., & Schriml L.M.(2015)Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data, Nucleic Acids Research.43(Database issue):D1071-8. doi: 10.1093/nar/gku1011 PMID:25348409 PDF
  • Schriml L.M., Arze C., Nadendla S., Chang Y.W., Mazaitis M., Felix V., Feng G., & Kibbe W.A.(2012) Disease Ontology: a backbone for disease semantic integration, Nucleic Acids Research,40(Database issue):D940-6. doi: 10.1093/nar/gkr972 PMID:22080554 PDF
  • Osborne J.D., Flatow J., Holko M., Lin S.M., Kibbe W.A., Zhu L.J., Danila M.I., Feng G., & Chisholm R.L. (2009)Annotating the human genome with Disease Ontology, BMC Genomics,10 Suppl 1:S6. doi: 10.1186/1471-2164-10-S1-S6. PMID:19594883 PDF
  • Du P., Feng G., Flatow J., Song J., Holko M., Kibbe W.A., & Lin S.M. (2009)From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations, Bioinformatics,25,i63-8. doi: 10.1093/bioinformatics/btp193. PMID:19478018 PDF

Papers Citing Disease Ontology

To find the current list of papers [over 590!] that cited the Disease Ontology check out PubMed.